Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74718823A>G , CM000667.2:g.74718823A>G | GRCh38 |
| NC_000005.9:g.74014648A>G , CM000667.1:g.74014648A>G | GRCh37 |
| NC_000005.8:g.74050404A>G | NCBI36 |
| NG_009770.1:g.38680A>G | |
| NG_009770.2:g.83801A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.1269A>G MANE Select | NP_000512.2:p.Val423= |
| ENST00000261416.12:c.1269A>G MANE Select | ENSP00000261416.7:p.Val423= |
| NM_000521.3:c.1269A>G | NP_000512.1:p.Val423= |
| NM_001292004.1:c.594A>G | NP_001278933.1:p.Val198= |
| NM_001292004.2:c.594A>G | NP_001278933.1:p.Val198= |
| ENST00000261416.11:c.1269A>G | ENSP00000261416.7:p.Val423= |
| ENST00000503312.5:c.145A>G | |
| ENST00000504459.5:n.466A>G | |
| ENST00000511181.5:c.594A>G | ENSP00000426285.1:p.Val198= |
| ENST00000513336.5:c.205A>G | |
| ENST00000513539.1:n.74-86A>G |